Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome

Area of Science:

• Medical Genetics
• Thrombosis Research
• Hepatology

Background:

• Hyperhomocysteinemia (HH) is a known risk factor for thrombosis.
• The 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation is associated with elevated homocysteine levels.
• The specific roles of HH and MTHFR C677T mutation in Budd-Chiari syndrome (BCS) remain unclear.

Purpose of the Study:

• To investigate the association between hyperhomocysteinemia and the MTHFR C677T mutation in patients diagnosed with Budd-Chiari syndrome.
• To determine if HH and MTHFR C677T mutation are independent risk factors for BCS.

Main Methods:

• A case-control study comparing 41 BCS patients with 80 healthy controls, matched for age and sex.
• Measurement of plasma homocysteine levels to identify hyperhomocysteinemia.
• Genotyping for the MTHFR C677T polymorphism (TT, CT, CC genotypes).

Main Results:

• BCS patients exhibited significantly higher mean plasma homocysteine levels compared to controls (20.15 vs. 15.80 micromol/L, P < 0.01).
• Hyperhomocysteinemia was more prevalent in BCS patients (36.59%) than in controls (17.5%), with an odds ratio (OR) of 2.72.
• The MTHFR 677TT genotype (22.0% vs. 10.0%) and the 677T allele (45.1% vs. 31.3%) were significantly more frequent in BCS patients, indicating an increased relative risk (OR, 3.3 for TT genotype).

Conclusions:

• Both hyperhomocysteinemia and the homozygous MTHFR C677T mutation are identified as significant risk factors for Budd-Chiari syndrome.
• These findings highlight the importance of assessing homocysteine levels and MTHFR genotype in BCS patients for risk stratification and potential management strategies.